rs1565930588, HSPB8

N. diseases: 19
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal muscle tone
CUI: C0852413
Disease: Abnormal muscle tone
7 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Difficulty walking up stairs
CUI: C0239067
Disease: Difficulty walking up stairs
7 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Distal Muscular Dystrophies
CUI: C0751336
Disease: Distal Muscular Dystrophies
18 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Frequent falls
CUI: C0850703
Disease: Frequent falls
4 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Gait, Drop Foot
CUI: C0427149
Disease: Gait, Drop Foot
5 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Gowers sign
CUI: C0234182
Disease: Gowers sign
8 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Lipoma
CUI: C0023798
Disease: Lipoma
9 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Low Back Pain
CUI: C0024031
Disease: Low Back Pain
11 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Muscle Weakness Lower Limb
CUI: C1836296
Disease: Muscle Weakness Lower Limb
15 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Muscle Weakness Upper Limb
CUI: C1698196
Disease: Muscle Weakness Upper Limb
3 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Peripheral motor neuropathy
CUI: C0235025
Disease: Peripheral motor neuropathy
20 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Progressive muscle weakness
CUI: C0240421
Disease: Progressive muscle weakness
15 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
Shoulder girdle muscle atrophy
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
1 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018